Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes

European Journal of Medical Genetics

Volumn 56, Issue 3, 2013, Pages 171-173

  Hancarova, Miroslava ^a   Simandlova, Martina ^a   Drabova, Jana ^a   Petrak, Borivoj ^a   Koudova, Monika ^a   Havlovicova, Marketa ^a   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; BODY HEIGHT; BONE MALFORMATION; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 12Q13.13; CISTERNA MAGNA; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; CRYPTORCHISM; ENOPHTHALMOS; FAILURE TO THRIVE; FLEXION CONTRACTURE; FUNNEL CHEST; GENE CLUSTER; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HEART SURGERY; HERNIA; HOX GENE; HUMAN; HYPERMETROPIA; HYPOTELORISM; INTELLECTUAL IMPAIRMENT; KYPHOSIS; LETTER; LONG PHILTRUM; MALE; MICROCEPHALY; PHENOTYPE; PSYCHOMOTOR RETARDATION; PULMONARY VALVE STENOSIS; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; STRABISMUS;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HUMANS; INTELLECTUAL DISABILITY;

EID: 84874292248     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.12.003     Document Type: Letter

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